GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:0042274111 | Esophagus | ESCC | ribosomal small subunit biogenesis | 67/8552 | 73/18723 | 6.62e-17 | 5.38e-15 | 67 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:000941113 | Esophagus | ESCC | response to UV | 115/8552 | 149/18723 | 3.29e-15 | 1.93e-13 | 115 |
GO:000635414 | Esophagus | ESCC | DNA-templated transcription, elongation | 76/8552 | 91/18723 | 8.35e-14 | 4.11e-12 | 76 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
GO:0051099111 | Esophagus | ESCC | positive regulation of binding | 122/8552 | 173/18723 | 2.79e-11 | 9.45e-10 | 122 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
GO:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0342022 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa030222 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
hsa0342032 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa0302211 | Esophagus | ESCC | Basal transcription factors | 35/4205 | 45/8465 | 1.01e-04 | 4.06e-04 | 2.08e-04 | 35 |
hsa034204 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
hsa03022 | Oral cavity | OSCC | Basal transcription factors | 28/3704 | 45/8465 | 9.53e-03 | 2.11e-02 | 1.08e-02 | 28 |
hsa0342011 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
hsa030221 | Oral cavity | OSCC | Basal transcription factors | 28/3704 | 45/8465 | 9.53e-03 | 2.11e-02 | 1.08e-02 | 28 |
hsa0342021 | Oral cavity | LP | Nucleotide excision repair | 37/2418 | 63/8465 | 5.14e-07 | 6.33e-06 | 4.08e-06 | 37 |
hsa0342031 | Oral cavity | LP | Nucleotide excision repair | 37/2418 | 63/8465 | 5.14e-07 | 6.33e-06 | 4.08e-06 | 37 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
ERCC2 | SNV | Missense_Mutation | novel | c.259N>A | p.Leu87Ile | p.L87I | P18074 | protein_coding | deleterious(0.01) | possibly_damaging(0.859) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.1195N>A | p.Leu399Ile | p.L399I | P18074 | protein_coding | tolerated(0.2) | benign(0.139) | TCGA-A5-A2K7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
ERCC2 | SNV | Missense_Mutation | rs121913024 | c.1846C>T | p.Arg616Trp | p.R616W | P18074 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.1232C>T | p.Ala411Val | p.A411V | P18074 | protein_coding | tolerated(0.11) | benign(0.027) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.2107N>T | p.Asp703Tyr | p.D703Y | P18074 | protein_coding | deleterious(0) | possibly_damaging(0.827) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
ERCC2 | SNV | Missense_Mutation | novel | c.1429N>G | p.Thr477Ala | p.T477A | P18074 | protein_coding | tolerated(0.09) | benign(0.005) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.1948N>A | p.Asp650Asn | p.D650N | P18074 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | | c.977N>T | p.Ala326Val | p.A326V | P18074 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | rs574002154 | c.1255G>A | p.Glu419Lys | p.E419K | P18074 | protein_coding | deleterious(0) | possibly_damaging(0.537) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ERCC2 | SNV | Missense_Mutation | novel | c.1046N>C | p.Val349Ala | p.V349A | P18074 | protein_coding | tolerated(0.09) | benign(0.147) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | CARBOPLATIN | CARBOPLATIN | 19470925 |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | CISPLATIN | CISPLATIN | 19434073 |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | bleomycin | BLEOMYCIN | |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | gemcitabine | GEMCITABINE | |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | Cisplatin | CISPLATIN | |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | PACLITAXEL | PACLITAXEL | 19470925 |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | leucovorin | LEUCOVORIN | 18267032,20385995,20078613 |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | CISPLATIN | CISPLATIN | 12839662 |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | docetaxel | DOCETAXEL | 25495407 |
2068 | ERCC2 | KINASE, TRANSCRIPTION FACTOR, CLINICALLY ACTIONABLE, DRUG RESISTANCE, ENZYME | | platinum | PLATINUM | 19434073,22188361,29662106,22026922,21449681 |